Fanconi-Bickel syndrome: genes and variants
Fanconi-Bickel syndrome is linked to 1 analyzed protein (SLC2A2). 10 DNA variants are known to cause it; 82 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Fanconi-Bickel syndrome
SLC2A2: Solute carrier family 2, facilitated glucose transporter member 2
It enables high-capacity bidirectional glucose transport in liver, intestine, kidney, and pancreatic cells, matching transport to changing glucose concentrations. Biallelic loss-of-function variants cause Fanconi-Bickel syndrome with hepatomegaly, abnormal glucose homeostasis, and renal tubular dysfunction.
10 disease-causing and 82 uncertain variants in SLC2A2 are linked to Fanconi-Bickel syndrome.
Known disease-causing variants in Fanconi-Bickel syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC2A2 V197L | 197 | Transmembrane | Disease-causing (★★) |
| SLC2A2 P417L | 417 | Transmembrane | Disease-causing (★★) |
| SLC2A2 R158S | 158 | Extracellular | Disease-causing (★★) |
| SLC2A2 G318R | 318 | Transmembrane | Disease-causing (★) |
| SLC2A2 W444R | 444 | Transmembrane | Disease-causing (★) |
| SLC2A2 G416S | 416 | Transmembrane | Disease-causing (★) |
| SLC2A2 M1R | 1 | Cytoplasmic | Disease-causing (★) |
| SLC2A2 G20D | 20 | Transmembrane | Disease-causing (★) |
| SLC2A2 V423E | 423 | Cytoplasmic | Disease-causing |
| SLC2A2 L389P | 389 | Transmembrane | Disease-causing |
Uncertain variants in Fanconi-Bickel syndrome that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SLC2A2 P417Q | 417 | Transmembrane | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; P417L at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.70 |
Diseases related to Fanconi-Bickel syndrome
- Monogenic diabetes, also linked to SLC2A2
- Type 2 diabetes mellitus, also linked to SLC2A2
Frequently asked questions
Which genes are linked to Fanconi-Bickel syndrome?
In CATVariant, Fanconi-Bickel syndrome is linked to 1 analyzed protein: SLC2A2 (Solute carrier family 2, facilitated glucose transporter member 2).
How many genetic variants are linked to Fanconi-Bickel syndrome?
96 variants: 10 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 82 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fanconi-Bickel syndrome look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example SLC2A2 P417Q. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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